Maturity-Onset Diabetes of the Young NGS Panel

Synonyms

  • LAB4200
  • MATURITY-ONSET DIABETES OF THE YOUNG
  • MODY

Cerner Name

Maturity-Onset Diabetes of the Young

Clinical Info

Conditions
Maturity-Onset Diabetes of the Young (MODY)
Permanent Neonatal Diabetes (PND)
Clinical Utility
Molecular confirmation of a clinical diagnosis
To assist with decisions about treatment and management of individuals with MODY
Testing of at-risk relatives for specific known mutation(s) previously identified in an affected family member

Specimen Sources

Blood, Arterial Blood, Capillary Blood, Central Line Blood, Venous

Specimen Types

Blood

Specimen Volume

2-5 mL Blood - Lavender Top Tube

Container

Lavender Top Tube or Buccal (Oral Cheek Swab)

Collection Instructions

Transport Instructions

Room Temperature

Specimen Stability

Methodology

Next-Gen Sequencing
Deletion/Duplication Analysis

Days Performed

Performing Laboratories

GeneDx

CPT

81403x1, 81404x2, 81405x2, 81406x3, 81407x1, 81479x3

PDM

245347

Results
Component Name Base Name Common Name External Name
MATURITY-ONSET DIABETES OF THE YOUNG (MODY) PANEL MODY MODY PANEL Maturity-Onset Diabetes of the Young (MODY) Panel

Result Interpretation

Genes

ABCC8, APPL1, BLK, CEL, GCK, GLUD1, HADH, HNF1A, HNF1B, HNF4A, INS, KCNJ11, KLF11, NEUROD1, PAX4, PDX1, RFX6, WFS1

Forms
Molecular-Send Outs LAB4200 build edit